Results 21 to 30 of about 3,348,298 (337)
A novel RUNX1 mutation in familial platelet disorder with propensity to develop myeloid malignancies
Haematologica, 2007 We describe a Japanese family with familial platelet disorder with propensity to develop myeloid malignancies (FPD/MM). Among the three affected individuals, two members developed myeloid malignancies.
Keita Kirito +5 more
openalex +3 more sources
Clinical and laboratorial characterization of a cohort of patients with hereditary platelet disorders in Brazil [PDF]
Hematology, Transfusion and Cell TherapyIntroduction: Inherited platelet disorders are rare conditions characterized by altered platelet function and/or reduced platelet counts. Diagnosing these disorders is challenging and may result in delays, misdiagnosis, and inappropriate treatment.
Letícia Dalla Vecchia Grassi +5 more
doaj +2 more sources
Clinical utility gene card for: Familial platelet disorder with associated myeloid malignancies. [PDF]
Eur J Hum Genet, 2016 Ripperger T +5 more
europepmc +2 more sources
Anesthesia Management Using Remimazolam in A Patient With Bernard‐Soulier Syndrome: A Case Report [PDF]
Clinical Case ReportsBernard‐Soulier syndrome (BSS) is a platelet dysfunction disorder characterized by massive thrombocytopenia and a lack of platelet aggregation. Remimazolam, a short‐acting benzodiazepine sedative, is believed to have minimal effects on platelets.
Tomoharu Shakuo +5 more
doaj +2 more sources
Frontiers in Pediatrics, 2022 Glanzmann thrombasthenia (GT) is a rare autosomal recessive platelet disorder due to a qualitative or quantitative anomaly of the platelet membrane glycoprotein GPIIb/IIIa. Its clinical manifestations include mild to severe bleeding.
Jian hua Li +9 more
doaj +1 more source
Platelets, 2023 GALE gene encodes the uridine diphosphate [UDP]-galactose-4-epimerase, which catalyzes the bidirectional interconversion of UDP-glucose to UDP-galactose, and UDP-N-acetyl-glucosamine to UDP-N-acetyl-galactosamine.
Ana Marín-Quílez +5 more
doaj +1 more source
Genomics of platelet disorders [PDF]
Haemophilia, 2016 Genetic diagnosis in families with inherited platelet disorders (IPD) is not performed widely because of the genetic heterogeneity of this group of disorders and because in most cases, it is not possible to select single candidate genes for analysis using clinical and laboratory phenotypes. Next‐generation sequencing (NGS) technology has revolutionized
S. K. Westbury, A. D. Mumford
openaire +5 more sources
RUNX1 Germline Mutation in a Patient with Chronic Thrombocytopenia
Clinical Pediatric Hematology-Oncology, 2021 One of the pathophysiologic mechanism of inherited thrombocytopenia is a defect in transcription factors that regulate the expression of multiple genes required for megakaryopoiesis.
Yujin Nam, Gyu Min Yeon, Seom Gim Kong
doaj +1 more source
Platelets, 2022 ANKRD26 is a highly conserved gene located on chromosome 10p12.1 which has shown to play a role in normal megakaryocyte differentiation. ANKRD26-related thrombocytopenia, or thrombocytopenia 2, is an inherited thrombocytopenia with mild bleeding ...
Hrushikesh Vyas +5 more
doaj +1 more source
Brain Science, 2021 Background: Several inflammatory hypotheses have been suggested to explain the etiopathogenesis of bipolar disorder (BD) and its different phases. Neutrophil-to-lymphocyte (NLR), platelet-to-lymphocyte (PLR), and monocyte-to-lymphocyte (MLR) ratios have ...
L. Fusar-Poli +8 more
semanticscholar +1 more source